OMOP Concept 1245356
NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
StandardConditionSNOMED1300131002Disorder
Maps from
0
Descendants
0
Valid from
1 Feb 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance across source vocabularies.
- Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
- Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)
- NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
- trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado a la neurexina 1
- trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado a la neurexina 1 (trastorno)
- Trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado al gen NRXN1 (neurexina 1)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Disorder of sleep-wake cycle
- 1Genetic intellectual disability
- 1Global developmental delay
- 1Neurodevelopmental delay
- 1Severe intellectual disability
- 2Autosomal hereditary disorder
- 2Developmental delay
- 2Developmental disorder
- 2Dyssomnia
- 2Genetic disease
- 2Hereditary disease
- 2Intellectual disability
- 2Neurodevelopmental disorder
- 3Abnormal behavior
- 3Disease
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Sleep disorder
- 4Behavior finding
- 4Clinical finding
- 4Cognitive function finding
- 4Finding related to sleep
- 4Intelligence finding
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